|
Myopathy
|
0.200 |
Biomarker
|
group |
BEFREE |
Duchenne muscular dystrophy (DMD) is a severe childhood muscle disease primarily caused by the lack of functional dystrophin at the muscle fiber membranes.
|
31821107 |
2020 |
|
Myopathy
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Duchenne muscular dystrophy [DMD] is the most common inherited myopathy and is caused by a defect in the dystrophin gene on the X chromosome causing production of a dysfunctional dystrophin protein.
|
31130422 |
2019 |
|
Myopathy
|
0.200 |
GeneticVariation
|
group |
BEFREE |
MCs underwent multiplex ligation‑dependent probe amplification (MLPA) for dystrophin gene exons combined with muscle disease panel test based on a next‑generation sequencing (NGS) platform.
|
30816495 |
2019 |
|
Myopathy
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Coexistence of a CAV3 mutation and a DMD deletion in a family with complex muscular diseases.
|
30723005 |
2019 |
|
Myopathy
|
0.200 |
Biomarker
|
group |
BEFREE |
Clustered regularly interspaced short palindromic repeats (CRISPR) editing is being considered as a potential gene repair therapy to treat Duchenne muscular dystrophy, a dystrophin-deficient lethal muscle disease affecting all muscles in the body.
|
30648435 |
2019 |
|
Myopathy
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Duchenne muscular dystrophy (DMD), the most common inherited muscular disease in childhood, is caused by dystrophin deficiency because of mutations in the <i>DMD</i> gene.
|
29874176 |
2018 |
|
Myopathy
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Duchenne muscular dystrophy (DMD) is a progressive X-linked degenerative muscle disease due to mutations in the DMD gene.
|
30414046 |
2018 |
|
Myopathy
|
0.200 |
AlteredExpression
|
group |
BEFREE |
The alteration in body composition is independent of the presence of skeletal muscle disease, as it is still present in mice with transgenic expression of a fully-functional dystrophin in skeletal muscle.
|
30206270 |
2018 |
|
Myopathy
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Several mutations within dystrophin's ABD1 are associated with the development of severe degenerative muscle disorders Duchenne and Becker muscular dystrophies, highlighting the importance of understanding its structural biology.
|
30007583 |
2018 |
|
Myopathy
|
0.200 |
Biomarker
|
group |
BEFREE |
Dystrophin loss has been related to end-stage cardiac myopathies and proposed as a common route for myocardial dysfunction and progression to advanced heart failure.
|
27730362 |
2017 |
|
Myopathy
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Duchenne and Becker muscular dystrophies (DMD and BMD) are X-linked myopathies caused by mutations of the dystrophin gene.
|
27750387 |
2017 |
|
Myopathy
|
0.200 |
Biomarker
|
group |
BEFREE |
From the pedigree, two female patients were referred for DMD investigation due to chronic myopathy and a muscle biopsy compatible with dystrophinopathy.
|
27417533 |
2016 |
|
Myopathy
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Future screening protocols should include infants of both sexes and include follow-up testing algorithms to evaluate patients who do not have DMD gene mutations but may have another muscle disorder associated with elevated neonatal creatine kinase levels.
|
26594870 |
2016 |
|
Myopathy
|
0.200 |
Biomarker
|
group |
BEFREE |
The mild end of the spectrum includes the phenotype of the muscle cramps with myoglobinuria and isolated quadriceps myopathy, while at the severe end, there are progressive muscle diseases that are classified as Duchenne / Becker muscular dystrophy (DMD/BMD).
|
25416089 |
2015 |
|
Myopathy
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Duchenne and Becker muscular dystrophies (DMD/BMD) are X-linked inherited muscular disorders caused by mutations in the dystrophin gene.
|
24225992 |
2014 |
|
Myopathy
|
0.200 |
Biomarker
|
group |
BEFREE |
We find that the muscle degeneration observed in a C. elegans model of dystrophin-based muscular dystrophy can be suppressed by clp-1 inactivation and that nemadipine-A inhibition of the EGL-19 calcium channel reveals that Ca(2+) dysfunction underlies the C. elegans MyoD model of myopathy.
|
22479198 |
2012 |
|
Myopathy
|
0.200 |
Biomarker
|
group |
BEFREE |
In addition to muscle disease, defects in processing and assembly of the dystrophin-glycoprotein complex (DGC) are associated with a spectrum of brain abnormalities ranging from mild cognitive impairment (MCI) to neuronal migration disorders.
|
22626542 |
2012 |
|
Myopathy
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Duchenne muscular dystrophy (DMD)--which is caused by mutations in the dystrophin gene-is one of the most severe myopathies.
|
21212803 |
2011 |
|
Myopathy
|
0.200 |
Biomarker
|
group |
BEFREE |
Duchenne muscular dystrophy (DMD) is a severe striated muscle disease due to the absence of dystrophin.
|
20952415 |
2011 |
|
Myopathy
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Among the MMPs, MMP-9 and MMP-2 have been reported to be up-regulated in skeletal muscles in the lethal X-linked muscle disorder Duchenne muscular dystrophy (DMD), which is caused by loss of dystrophin.
|
21320869 |
2011 |
|
Myopathy
|
0.200 |
Biomarker
|
group |
BEFREE |
Collectively, these results suggest that perturbing a dystrophin-β(cyto)-actin linkage decreases dystrophin stability, which results in a QM, and implicates β(cyto)-actin as a possible candidate gene in QM pathology.
|
21325027 |
2011 |
|
Myopathy
|
0.200 |
AlteredExpression
|
group |
BEFREE |
Myocardial biopsy excluded viral infection and showed severe myopathic changes with abnormal expression of dystrophin and utrophin.
|
18706718 |
2010 |
|
Myopathy
|
0.200 |
Biomarker
|
group |
BEFREE |
In this study, we have investigated the role and the mechanisms by which increased levels of matrix metalloproteinase-9 (MMP-9) protein causes myopathy in dystrophin-deficient mdx mice.
|
19401296 |
2009 |
|
Myopathy
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Mutations in the dystrophin gene result in the most common inherited muscle disease, Duchenne muscular dystrophy (DMD).
|
18160999 |
2008 |
|
Myopathy
|
0.200 |
Biomarker
|
group |
BEFREE |
Duchenne muscular dystrophy (DMD), the most common lethal genetic disorder in children, is an X-linked recessive muscle disease characterized by the absence of dystrophin at the sarcolemma of muscle fibers.
|
17314403 |
2007 |